Does this sound like anyone? (LONG)

[showurhorns]

I posted a while back about my 16 month old DD having unexplained Neuropathy.

MRI Spine (Thoratic,Cerebral and Lumbar) was clear

EEG clear

ANA/CBC stated normal but Calculated BUN/Creat was at 50 and Calcium was at 10.7

Sleep study shows- Central Apnea ( neurologist has ordered a Apnea Monitor and for me to be CPR certified as a precaution)

We have been referred to Genetics for Metabolic as Neurologist can not find a Neuro cause.

We are scheduled for a Brain MRI March 30th. To rule out everything Neuro!

Neurologist stated out of 25k + patients this is his first case like this.

She is Developmently on target or possibily advance in certain areas.
I have noticed she was very advanced in her language until about 14 months than she began losing words and not regaining new ones. Neurologist said not to worry but if it continued it could be red flags for Austim or PPD but we both felt that was unlikely as she very social and reacts appropriately.

Neurologist and I discussed a possiblity that her symptoms could be caused by her being distressed at labor and birth. But I am confused as why her symptoms became worse as she aged and there has been no Development delays if it is a brain injury.

She was DX with SPD. As she gets older it has gotten worse.
She refuses all food expect formula, juice,yogurt smoothies(homemade),tomatoes, french fries, chicken nuggets,and blueberries. Formula, yogurt smoothies and chicken nuggets is the ONLY protein she will intake.

She was but on Neurontin for nerve pain and did much better w/ her neuropathy but some symptoms have returned even after an adjustment of her meds. Sleeping Distrubances have returned.

I am at a LOST....She fits Nothing!!!
HAS ANYONE HEARD OF ANYTHING THAT SOUNDS FIMILAR TO THIS!! I am counting on self educated moms out there to help me!!!! If I wasn't such advocate for my DD they would still be telling me it is GERD (by the way that was eliminated)!
I pray that Genetics can figure this out.


Sorry for such a long detailed post. I am just so frustrated and at a lost.

[2boyzmama]

What signs of SPD does she have? Seeking/avoiding/combination?

How did the rule out GERD? (not to dismiss your other concerns at all, but if there's even mild reflux it could exacerbate things)

I have no idea, but I was trying to just think of information you didn't give yet that might be helpful

[showurhorns]

She has combination SPD but mostly advoid.

We saw GI Dr and he was convinced it was not GERD based on his/our observations. Meds only made her spit up/vomit. She had no signs of GERD. No spitting up, no red inflammated throat. It was only suggested by Pedi as they could not explain the unconsotable crying. The GI Dr said we could do an upper but felt it was not founded. I guess it is possiblity it a silent reflux but I really w/ Dr on this one. It never fit except the crying.

The eating problems I feel are oral aversions. The eating has only gotten worse. She use to have more of a variety even though she preferred crunchy. She will not even try new things. I always offer things not on "HER" list. I have even tried to the she will eat when she gets hungry approach. NOPE...it is almost like she doesn't get hungry. If I don't sit her down to eat she will not ask or indicate that she is hungry. I can hear her stomach growling and she happy shows no interest in eating. ...SO i sometimes wonder if she doesn't feel hungar. Neurologist did note the lack of eating. She has stayed the same weight for 8 months. She recently gained about a pound after I started putting formula back in her diet. She refused milk. When she was taking a bottle I could get her to take milk,cereal and Kefir smoothie. But she won't take it in a cup and refuses a bottle now(after weaning her).

[2boyzmama]

Hmm...I'd say that metabolics and a brain scan are the next logical step then. The not getting hungry thing is odd to me...it's triggering thoughts of pituitary problems or thyroid/parathyroid.

In fact...her calcium was a 10 you said, what was the reference range? It can vary by lab sometimes. But in my son's syndrome (22q11.2 deletion), hypoparathyroidism is very common, as is hypocalcemia which leads to seizures. Do you know if her thyroid has been checked?

[2boyzmama]

There's a syndrome called Prader-Willi that causes insatiable appetite because of a neurological condition that causes the body to not recognize that it's full. http://ghr.nlm.nih.gov/condition=praderwillisyndrome

I wonder if there's something "opposite" of that...

[sbgrace]

Hmmm...my neuropathy was metabolic but there were other symptoms too. Metabolics isn't just one thing usually. My son has a metabolic condition and we were seeing multiple symptoms from very young. Still it seems like a next step for her. How is her energy level? Growth? Any other anything at all going on w/her?
If it is metabolic you can have serious issues with restrictive diets if the choices hit on the food that her body can't metabolize. Be careful. Make sure you are balanced in carbs and fat and protein. Watch for any changes.

edited to add: her calcium was 10.7? Make sure of that. It would be unheard of for a child of her age to have hyperparathyroid disease but a calcium of 10 is not normal (no matter what the slip says). I'd have that lab redrawn. MEN syndrome would I think be the only explanation for a parathyroid issue in kids and even then she's too young I think (and you'd have issues in other family members). So when you look parathyroid is going to be mentioned often as it's the most common cause but it doesn't fit her age (I'm pretty sure, even with MEN) so look at other causes of hypercalcium and see if they fit. Her level isn't normal so, to me, that's significant.

Was her thyroid level checked?
Did she have a newborn metabolic screen and, if so, does your state do expanded screening?

Edited again to add:
Quick google makes me think she needs thyroid panel (including T3 and T4) now if they haven't done that. Hyperthyroid can cause high calcium it looks like and would certainly cause appetite/growth issues. I'm nearly certain it can cause neuropathy too. Of course I'm assuming they likely ran thyroid already but if not I'd do that immediately. Also recheck that calcium.

[showurhorns]

2boyzmamma- Calcium is 10.7 range is 10.5.

I thought Neurologist did run Thyroid but I am not finding results on lab report. If not I am sure Metabolics will. I have thought of Thyroid also as she drinks excessively. I have from time to time monitor fluid intake as I fearful it was curving her appetite.

sbgrace- Believe me when I say I try to give her a balance diet but it is impossible. This is one reason we went back on formula. I worry about the diet aspect if is Metabolic as she has such oral aversions. She virtualy eats no protein. I looking into protein powder to add to smoothies as it seems that is the only way to sneak a variety of nutrition in her.
She was 75-95% in height and weight. Now is 25% in height and less than 25% in weight. She doesn't look malnourished as she does have some body fat. She has very lean sturcture. Very petite. I am small also so isn't a major flag. She does have low energy level but also have difficulties w/ sleep. So not sure if she has low energy because of lack of sleep or other problems. She has a tendency to run herself to the ground. If we are out or she is playing outside it is hard to get her to take a nap. I am a SAHM so I try to keep her on a schedule to enforce naps. But having older children there is many times it isn't possible.

So we have symptoms listed as:
Neuropathy
Central Apnea
loss of appetite
excessive thirst
low energy
sleep disorder
SPD

She had the following as an infant:
Hyper Startle Reflex
Hypertonicity
Inconstable crying
signs of neuropathy as early as 6 weeks
Ear Pain that was cured by tubes (they believed it was ear pressure)

[sbgrace]

Ok. She's got more going on then in my mind so metabolics and genetics is something to investigate. Mitochondrial disorder might be worth looking into though usually tone is low rather than high and she doesn't fit what I normally see exactly. But mito kids look so different it needs to be on the radar! Here is my link on that. http://www.mothering.com/discussions...d.php?t=734501

Her calcium was 10.7? Make sure of that. It would be unheard of for a child of her age to have hyperparathyroid disease but a calcium of 10 is not normal (no matter what the slip says). I'd have that lab redrawn. MEN syndrome would I think be the only explanation for a parathyroid issue in kids and even then she's too young I think (and you'd have issues in other family members). So when you look parathyroid is going to be mentioned often as it's the most common cause but it doesn't fit her age (I'm pretty sure, even with MEN) so look at other causes of hypercalcium and see if they fit. Her level isn't normal so, to me, that's significant.

See if her thyroid was checked.
Did she have a newborn metabolic screen and, if so, does your state do expanded screening?


Quick google makes me think she needs thyroid panel (including T3 and T4) now if they haven't done that. Hyperthyroid can cause high calcium it looks like and would certainly cause growth issues though I think you'd see appetite increases. It can cause excess thirst. I'm nearly certain it can cause neuropathy too. Of course I'm assuming they likely ran thyroid already but if not I'd do that immediately. Also recheck that calcium. Has blood sugar been checked?

When I responded to your post I was confusing it with someone who was restricting based on IGG testing. I apologize for that. You can't make a picky child eat what you want. Formula is balanced and she'll drink that so she's not so far off probably. Run numbers and make sure she's not too fat or protein heavy and make sure she's got enough calories. (If she doesn't then you've got the growth answer, if she does then the growth is part of your picture in terms of what is underlying this issue). Make sure she has enough protein too but I don't think protein is low based on the foods you listed.

MRI seems prudent since much of this is possibly brain related.
Outside of that I'm thinking endocronology (thyroid, something else?), genetic, or metabolic (don't forget mito especially since that wouldn't show up on a newborn screen). How's that for wide? I'm really sorry. I know how difficult this is. My son was finally identified as metabolic at 3.5 and I felt the sun had finally come out in our lives after a long dark nightmare. I hope your journey to answers is fast from here on out.

[MotherWhimsey]

sbgrace- I'm pretty sure Linden's calcium has always been 10+ and no one has ever been concerned with that. why would a calcium over 10 be in issue? Just wondering if there's something we've missed.

[sbgrace]

Originally Posted by MotherWhimsey

sbgrace- I'm pretty sure Linden's calcium has always been 10+ and no one has ever been concerned with that. why would a calcium over 10 be in issue? Just wondering if there's something we've missed.

What I know about calcium levels comes from experience with my sister who had levels of 10 or so for quite a while before she was diagnosed with parathyroid disease. I learned via that (parathyroid disease research) that the body doesn't handle a calcium of 10 well and if it is 10 something is wrong. Now, this is all adult stuff but based on what I've read I don't *think* normal calcium levels vary in pediatric populations. From what I've read he pediatric ranges are just like adult ranges (and the upper end of the range is generally 10.5 which is not actually normal or healthy for anyone). This is my understanding though and clearly I'm not an endocronologist nor have I done a ton of research into calcium in pediatrics. But based on what I think I know if he's running up there I'd want it investigated were it my son. At least I'd be searching to figure out if my understanding of pediatric calcium is correct. Hypercalcium (even those 10ish numbers) is really, really hard on the body.

[Liba613]

Originally Posted by sbgrace

What I know about calcium levels comes from experience with my sister who had levels of 10 or so for quite a while before she was diagnosed with parathyroid disease. I learned via that (parathyroid disease research) that the body doesn't handle a calcium of 10 well and if it is 10 something is wrong. Now, this is all adult stuff but based on what I've read I don't *think* normal calcium levels vary in pediatric populations. From what I've read he pediatric ranges are just like adult ranges (and the upper end of the range is generally 10.5 which is not actually normal or healthy for anyone). This is my understanding though and clearly I'm not an endocronologist nor have I done a ton of research into calcium in pediatrics. But based on what I think I know if he's running up there I'd want it investigated were it my son. At least I'd be searching to figure out if my understanding of pediatric calcium is correct. Hypercalcium (even those 10ish numbers) is really, really hard on the body.

Pediatric normals are very different. Since I am hypoparathyroid and have regular calcium checks and IVs I take note of calcium levels.

11.0 is the top of the pediatric normals at my lab and 10.2 is the top for adult normals at the same lab.

Avraham Chaim's calcium was 10.4 last time it was checked. I wonder how many children have calcium levels under 10.